Varaico: Literature-Extracted Genetic Variants

Gene:GLT8D1
Variant:p.F196V

GLT8D1

49 papers

RefSeq Summary

This gene encodes a member of the glycosyltransferase family. The specific function of this protein has not been determined. Alternative splicing results in multiple transcript variants of this gene [...

Pfam Domains

Glyco_transf_8aa 67–340UCSCGlycosyl transferase family 8

Gene Aliases

HGNC Name

glycosyltransferase 8 domain containing 1

HGNC Alias Symbols

AD-017; FLJ14611

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018446.4
p.F196V
c.586T>G
Surrounding Variants
1 paper
NM_018446.4
p.E198G
c.593A>G
1 paper
NM_018446.4
p.D201N
c.601G>A
1 paper
NM_018446.4
p.V207A
c.620T>C
1 paper
NM_018446.4
p.L183V
c.547C>G
1 paper
NM_018446.4
p.R210H
c.629G>A
1 paper
NM_018446.4
p.Q215_Y216Splc
c.645+2T>G
1 paper
NM_018446.4
p.D173_V174del1
c.518_520delCAT
1 paper
NM_018446.4
p.D173A
c.518A>C
1 paper
NM_018446.4
p.D171A
c.512A>C
1 paper
NM_018446.4
p.L160V
c.478C>G
1 paper
NM_018446.4
p.R154R
c.460A>C
1 paper
NM_018446.4
p.Y216C
c.647A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."